Absence defect of limbs, scalp and skull

Synonyms

2

Overview

Adams-Oliver Syndrome is a very rare inherited disorder characterized by scalp, skull and limb abnormalities. The range and severity of the symptoms can vary greatly from mild to severe.

Symptoms

  • Growth deficiency
  • Abnormal membranous skin patches on scalp
  • Bone defect under abnormal scalp skin patches
  • Foot defects
  • Hand defects
  • Finger defects
  • Toe defects
  • Short fingers
  • Small toenails
  • Cutis marmorata
  • Lower leg defects
  • Short toes
  • Absent fingers
  • Absent toes
  • Absent foot
  • Absent hand
  • Missing bone sections of finger
  • Missing bone sections of toe
  • Hairless scarred patches of scalp
  • Patches of dilated blood vessels under scalp lesions
  • Skull bone defect
  • Short fingers
  • Short toes
  • Absend lower legs
  • Absent hands
  • Spinal dysraphism

Causes

There is no one cause for all cases of aplasia cutis congenita. The condition is thought to be multifactorial, which mean that several factors likely interact to cause the condition. Factors that may contribute include genetic factors; teratogens (exposures during pregnancy that can harm a developing fetus) such as methimazole, carbimazole, misoprostol, and valproic acid; compromised vasculature to the skin; and trauma. Some cases may represent an incomplete or unusual form of a neural tube defect. Familial cases of aplasia cutis congenita have been reported. Cases that appear to be genetic may be inherited in an autosomal dominant or autosomal recessive manner.

Diagnosis

  • Routine circumcision should be avoided as the foreskin may ultimately be used in the repair
  • Surgical revision is usually performed for cosmetic and functional reasons o Hypospadias and epispadias –Canalization of the penis improves urinary flow, erectile function, and fertility –Optimally, a skin flap is created using the foreskin
  • Chordee –Ventral release and urethroplasty at age 6–12 months o Dorsal hood –May not require treatment, or a modified routine circumcision may restore expected appearance
  • Micropenis –Androgen stimulation before puberty has been used but is controversial because it may impair penile growth during puberty

Prognosis

The long-term outlook for people with aplasia cutis congenita is usually excellent. If the condition is associated with other abnormalities or malformations, the prognosis then depends on the nature and severity of the other conditions.

Major complications of aplasia cutis congenita are rare, but can include hemorrhage, secondary local infection, meningitis, or sagittal sinus thrombosis. Larger affected areas associated with underlying bony defects can cause death due to central nervous system infection, or hemorrhage from the sagittal sinus. Complications can also result from associated abnormalities or malformations, when present.

Resources

  • NIH